Clinical trials: Genetic Association Studies
Stargardt Disease
The Natural History of the Progression of Atrophy Secondary to Stargardt Disease Type 4: PROM1-Related Macular Dystrophy
While a fair amount of clinical data on Stargardt disease type 1 (STGD1) have been published, very little is known about Stargardt disease type 4 (STGD4).
- Trial name
- ProgStar-4 (NCT02410122)
- Where
- 5 sites in United States, Germany and 1 more
- Volunteers
- 15 people
- Sponsor
- Johns Hopkins University
Transthyretin-Related (ATTR) Familial Amyloid Polyneuropathy, Transthyretin-Related (ATTR) Familial Amyloid Cardiomyopathy
Study to Evaluate Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of NTLA-2001 in Patients With Hereditary Transthyretin Amyloidosis With Polyneuropathy (ATTRv-PN) and Patients With Transthyretin Amyloidosis-Related Cardiomyopathy (ATTR-CM)
This study will be conducted to evaluate the safety, tolerability, pharmacokinetics (PK), and pharmacodynamics (PD) of NTLA-2001 in participants with hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN) and…
- Conditions
- Transthyretin-Related (ATTR) Familial Amyloid Polyneuropathy, Transthyretin-Related (ATTR) Familial Amyloid Cardiomyopathy, Wild-Type Transthyretin Cardiac Amyloidosis
- Trial name
- NCT04601051
- Testing
- NTLA-2001
- Where
- 4 sites in France, New Zealand and 2 more
- Volunteers
- 72 people
- Sponsor
- Intellia Therapeutics
Progressive Myoclonus Epilepsy Type 1, EPM1
Registry and Natural History Study for Progressive Myoclonus Epilepsy Type 1 (EPM1)
The Registry and Natural History Study for Progressive Myoclonus Epilepsy Type 1 (EPM1) is focused on gathering longitudinal clinical data as well as biological samples (blood and/or urine) from male and female patients, of all…
- Conditions
- Progressive Myoclonus Epilepsy Type 1, EPM1, CSTB-related Disease, Myoclonus Epilepsies, Progressive
- Trial name
- EPM1 (NCT06593951)
- Where
- United States
- Volunteers
- 200 people
- Sponsor
- Boston Children's Hospital
Ovarian Cancer
Tuvusertib Combined With Niraparib or Lartesertib in Participants With Epithelial Ovarian Cancer (DDRiver EOC 302)
The purpose of this study is to measure the effect and safety of treatment with tuvusertib combined with either niraparib or lartesertib in participants with epithelial ovarian cancer and to assess any differences between…
- Trial name
- NCT06433219
- Testing
- Tuvusertib (M1774), Niraparib, Lartesertib (M4076)
- Where
- 84 sites in United States, Australia and 11 more
- Volunteers
- 63 people
- Sponsor
- EMD Serono Research & Development Institute, Inc.
HSP, Hereditary Spastic Paraplegia
Safety and Efficacy of AAV9/AP4B1 (BFB-101) For Patients With AP4B1-related Hereditary Spastic Paraplegia Type 47 (SPG47)
Safety and Efficacy of AAV9/AP4B1 For Patients with AP4B1-related Hereditary Spastic Paraplegia Type 47 (SPG47): A Phase 1/2 Single-Center, Open-Label Study of Stereotactic Intra-cisterna Magna Administration.
- Conditions
- HSP, Hereditary Spastic Paraplegia, Hereditary Spastic Paraparesis, Hereditary Spastic Paraplegia Type 50
- Trial name
- NCT06948019
- Testing
- BFB-101 (AAV9-CBh-AP4B1)
- Where
- United States
- Volunteers
- 5 people
- Sponsor
- BlackfinBio Ltd
Sickle Cell Disease, Pregnancy Related
Sickle Cell Disease Obstetric Multi-Disciplinary Care Programme
To implement an effective but low-cost strategy to decrease SCD maternal and perinatal mortality in Ghana. The objectives are to 1) assess the impact of a multidisciplinary SCD-obstetric team for decreasing mortality across three…
- Trial name
- SCOB-II (NCT05143021)
- Testing
- Multidisciplinary Sickle Cell Disease- Obstetric Team
- Where
- 3 sites in Ghana
- Volunteers
- 500 people
- Sponsor
- Vanderbilt University Medical Center
Organic Acidemia, Methylmalonic Acidemia
Clinical and Laboratory Study of Methylmalonic Acidemia
Methylmalonic acidemia (MMA), one of the most common inborn errors of organic acid metabolism, is heterogeneous in etiology and clinical manifestations.
- Conditions
- Organic Acidemia, Methylmalonic Acidemia, Inborn Errors of Metabolism
- Trial name
- NCT00078078
- Where
- 3 sites in United States
- Volunteers
- 2,275 people, healthy volunteers welcome
- Sponsor
- National Human Genome Research Institute (NHGRI)
Age-Related Macular Degeneration
Genetic Study of Age-Related Macular Degeneration
This study will examine skin and blood cells for genetic changes related to the development of age-related macular degeneration, an eye disease that can significantly impair the ability to read, drive, and carry out daily…
- Trial name
- NCT00357578
- Where
- United States
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- National Eye Institute (NEI)
Vestibular Schwannoma, Neurofibromatosis Type 2
Icotinib Study for Patients With Neurofibromatosis Type 2 (NF2) and NF2-Related Tumors
1)Preliminarily evaluate the treatment effect of Icotinib Hydrochloride Tablets on NF2; 2)Preliminarily evaluate the safety and the patient's tolerance of the treatment of Icotinib; 3)Provide an objective basis for an enlarged…
- Trial name
- Icotinib (NCT02934256)
- Testing
- Icotinib
- Where
- 2 sites in China
- Volunteers
- 10 people
- Sponsor
- Li Peng
Schizophrenia, Schizoaffective Disorder
Neurophysiological Studies in Schizophrenia and Psychiatric Disorders
The overall goal of this project is to identify intermediate phenotypes for psychosis across the schizophrenia and bipolar disorders boundary with implications for future genetic studies.
- Conditions
- Schizophrenia, Schizoaffective Disorder, Bipolar Disorder
- Trial name
- BSNIP (NCT01384604)
- Where
- United States
- Volunteers
- 1,189 people, healthy volunteers welcome
- Sponsor
- University of Texas Southwestern Medical Center
Anesthesia, Analgesia
Genetic Variants and Perioperative Morbidity and Mortality
Prospective association study to analyse perioperative patients' outcome. Outcome comprises intraoperative and postoperative complications e.g.
- Conditions
- Anesthesia, Analgesia, Surgical Procedure, Operative
- Trial name
- NCT02124499
- Where
- Switzerland
- Volunteers
- 20,000 people, healthy volunteers welcome
- Sponsor
- Insel Gruppe AG, University Hospital Bern
Hemophilia A
Health Related Quality of Life of Youth and Young Adults With Hemophilia A
The relevance of the study will be in establishing whether Health Related Quality of Life (HRQoL) measures obtained repeatedly during hemophilia care are sensitive to significant changes in health or personal circumstances…
- Trial name
- NCT01034904
- Where
- 2 sites in Canada
- Volunteers
- 48 people
- Sponsor
- CSL Behring
Duchenne Muscular Dystrophy
Longitudinal Study of the Natural History of Duchenne Muscular Dystrophy (DMD)
The purpose of this study is to establish the largest long-term assessment of people with Duchenne muscular dystrophy (DMD). In this study, the investigators associated with the Cooperative International Neuromuscular Research…
- Trial name
- NCT00468832
- Where
- 21 sites in United States, Argentina and 6 more
- Volunteers
- 551 people, healthy volunteers welcome
- Sponsor
- Cooperative International Neuromuscular Research Group
Transthyretin-Related (ATTR) Familial Amyloid Polyneuropathy
Efficacy and Safety of Acoramidis (AG10) in Subjects with Transthyretin Amyloid Polyneurophathy (ATTRibute-PN)
Phase 3 efficacy and safety of acoramidis in subjects with symptomatic Transthyretin Amyloid Polyneuropathy (ATTR-PN)
- Trial name
- NCT04882735
- Testing
- Acoramidis
- Sponsor
- Eidos Therapeutics, a BridgeBio company
CYP3A Phenotyping, CYP3A5 and MDR1 Genotyping
Study of Usefulness of Genotyping to Predict Docetaxel Exposure and Adverse Events
Twenty patients with verified high risk breast cancer will be included in the study. Patients will receive three cycles of docetaxel followed by three cycles of CEF for their adjuvant treatment.
- Conditions
- CYP3A Phenotyping, CYP3A5 and MDR1 Genotyping, Docetaxel Toxicity, Associations Between Genetic Data and Docetaxel Toxicity
- Trial name
- Docetaxel (NCT01110291)
- Testing
- docetaxel + CEF
- Where
- Finland
- Volunteers
- 20 people
- Sponsor
- University of Turku
NF2-related Schwannomatosis, NF2
Luvometinib in Combination With Serplulimab for NF2-Related Tumors
This is an investigator-initiated, exploratory, multicenter, open-label, single-arm clinical trial and a substudy of the Platform Research for Innovative Medicines in NF2-SWN (PRIME-NF2).
- Conditions
- NF2-related Schwannomatosis, NF2, Neurofibromatosis Type 2, Vestibular Schwannoma
- Trial name
- NCT07708285
- Testing
- Luvometinib, Serplulimab
- Where
- 5 sites in China
- Volunteers
- 30 people
- Sponsor
- Beijing Tiantan Hospital
Schizophrenia, Metabolic Syndrome
Association of Multiple Genetic Polymorphisms With Clozapine-Associated Metabolic Change in Schizophrenia
We are going to investigate the association of multiple genetic polymorphisms with the metabolic side effects in patients with schizophrenia taking clozapine.
- Conditions
- Schizophrenia, Metabolic Syndrome, Genetic Polymorphism
- Trial name
- NCT00717509
- Where
- South Korea
- Volunteers
- 150 people
- Sponsor
- Seoul National Hospital
Carcinoma, Hepatocellular, Liver Cirrhosis, Alcoholic
A Study of Molecular and Genetic Factors for Liver Cancer in the Greater Baltimore Area
Background: Liver cancer is the third most deadly and fifth most common cancer worldwide. Hepatocellular carcinoma (HCC) is the most frequent primary liver cancer, and it has grown more prevalent in the United States.
- Conditions
- Carcinoma, Hepatocellular, Liver Cirrhosis, Alcoholic, Hepatitis, Alcoholic, Hepatitis, Chronic
- Trial name
- NCT00913757
- Where
- 2 sites in United States
- Volunteers
- 1,871 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
Locally Advanced or Metastatic Cancers, Metastatic Human Papillomavirus-Related Malignant Neoplasm
Study of TST005 in Patients With Locally Advanced or Metastatic Solid Tumors
This is an open label Phase 1, first-in-human (FIH) study of TST005, a bi-specific antibody consisting of a PD-L1 monoclonal antibody (mAb) and a transforming growth factor beta (TGF-β) trap in subjects with locally advanced or…
- Trial name
- NCT04958434
- Testing
- TST005
- Where
- 3 sites in United States
- Volunteers
- 19 people
- Sponsor
- Transcenta Therapeutics (Hangzhou) Co., Ltd.
Alcohol Related Disorders, Alcoholism
Pharmacokinetic Study of Single Dose Dutasteride in Healthy Subjects
To monitor the inhibition of 5a-reductase (5AR) enzyme activity at 1, 3, 7, 14, 21, 28 and 42 days following administration of a single dose of dutasteride (2, 3, or 4 mg) by measuring the change in blood levels of…
- Conditions
- Alcohol Related Disorders, Alcoholism, Alcohol Abuse
- Trial name
- NCT00802321
- Testing
- Dutasteride
- Where
- United States
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- UConn Health